Article
Functional phenotyping of genomic variants using joint multiomic single-cell DNA-RNA sequencing.
Nature methods - 1 Oct 2025
Lindenhofer Dominik, Bauman Julia R, Hawkins John A, Fitzgerald Donnacha, Yildiz Umut, Jung Haeyeon, Korosteleva Anastasiia, Marttinen Mikael, Kueblbeck Moritz, Zaugg Judith B, Noh Kyung-Min, Dietrich Sascha, Huber Wolfgang, Stegle Oliver, Steinmetz Lars M
Abstract excerpt
Genetic variants (both coding and noncoding) can impact gene function and expression, driving disease mechanisms such as cancer progression. The systematic study of endogenous genetic variants is hindered by inefficient precision editing tools, combined with technical limitations in confidently linking genotypes to gene expression at single-cell resolution. We developed single-cell DNA-RNA sequencing (SDR-seq) to...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.